Carrying a lethal gene

The New York Times has a fantastic article and video documentary on people who have decided to find out whether they carry the gene for the degenerative brain disorder Huntingdon’s disease, even before it’s started to causes any symptoms.

The disorder is caused by a single gene which, if inherited, causes a progressive deterioration in areas of the basal ganglia and frontal lobe which are eventually lethal.

The symptoms usually only appear in middle age and include, most visibly, uncontrolled movements of the body.

However, cognitive problems (such as impairments in memory, concentration, perception and strategic thinking), and the development of mood disorders and psychosis are also possible.

Because the disorder only takes hold in later years, many people with parents or grandparents with the disorder have to decide whether to get tested, and discover whether they have the gene and are fated to develop Huntingdon’s later in life.

The NYT article reports on how one young woman, who has taken the test and found out that she will develop the disorder, deals with the knowledge of her neurological fate.

Ms. Moser is still part of a distinct minority. But some researchers say her attitude is increasingly common among young people who know they may develop Huntington’s.

More informed about the genetics of the disease than any previous generation, they are convinced that they would rather know how many healthy years they have left than wake up one day to find the illness upon them. They are confident that new reproductive technologies can allow them to have children without transmitting the disease and are eager to be first in line should a treatment become available.

“We’re seeing a shift,” said Dr. Michael Hayden, a professor of human genetics at the University of British Columbia in Vancouver who has been providing various tests for Huntington’s for 20 years. “Younger people are coming for testing now, people in their 20s and early 30s; before, that was very rare. I’ve counseled some of them. They feel it is part of their heritage and that it is possible to lead a life that’s not defined by this gene.”

As well as showing some of the striking and distinctive movements associated with the disorder, the videos also relate some insightful reflections from Katie Moser, the subject of the article.

It’s common for there to be no cure for neurological illness, but usually there are some treatments which can slow down the symptoms.

Unlike some other disorders, there are remarkably few of these treatments for Huntingdon’s disease, although research is currently being undertaken to try and improve the situation.

Link to NYT article ‘Facing Life With a Lethal Gene’.Link to Wikipedia page on Huntingdon’s.